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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium; Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium; Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium; Gitler AD, Harris T, Myers RM; NYGC ALS Consortium; Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation; Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium; Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium; Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS… See abstract for full author list ➔ Nicolas A, et al. Among authors: van es ma, van eijk kr, van blitterswijk m, van eyk je, van vugt jjfa, van der spek ra, van damme p, van den berg lh, van rheenen w, van den bosch l, van deerlin vm. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.
Mutational analysis of TARDBP in neurodegenerative diseases.
Ticozzi N, LeClerc AL, van Blitterswijk M, Keagle P, McKenna-Yasek DM, Sapp PC, Silani V, Wills AM, Brown RH Jr, Landers JE. Ticozzi N, et al. Among authors: van blitterswijk m. Neurobiol Aging. 2011 Nov;32(11):2096-9. doi: 10.1016/j.neurobiolaging.2009.11.018. Epub 2009 Dec 23. Neurobiol Aging. 2011. PMID: 20031275 Free PMC article.
Paraoxonase gene mutations in amyotrophic lateral sclerosis.
Ticozzi N, LeClerc AL, Keagle PJ, Glass JD, Wills AM, van Blitterswijk M, Bosco DA, Rodriguez-Leyva I, Gellera C, Ratti A, Taroni F, McKenna-Yasek D, Sapp PC, Silani V, Furlong CE, Brown RH Jr, Landers JE. Ticozzi N, et al. Among authors: van blitterswijk m. Ann Neurol. 2010 Jul;68(1):102-7. doi: 10.1002/ana.21993. Ann Neurol. 2010. PMID: 20582942 Free PMC article.
Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2.
Van Damme P, Veldink JH, van Blitterswijk M, Corveleyn A, van Vught PW, Thijs V, Dubois B, Matthijs G, van den Berg LH, Robberecht W. Van Damme P, et al. Among authors: van blitterswijk m, van den berg lh, van vught pw. Neurology. 2011 Jun 14;76(24):2066-72. doi: 10.1212/WNL.0b013e31821f445b. Epub 2011 May 11. Neurology. 2011. PMID: 21562247
Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients.
van Blitterswijk M, van Vught PW, van Es MA, Schelhaas HJ, van der Kooi AJ, de Visser M, Veldink JH, van den Berg LH. van Blitterswijk M, et al. Among authors: van es ma, van der kooi aj, van den berg lh, van vught pw. Neurobiol Aging. 2012 May;33(5):1016.e1-7. doi: 10.1016/j.neurobiolaging.2011.05.019. Epub 2011 Jul 28. Neurobiol Aging. 2012. PMID: 21802176
VCP mutations in familial and sporadic amyotrophic lateral sclerosis.
Koppers M, van Blitterswijk MM, Vlam L, Rowicka PA, van Vught PW, Groen EJ, Spliet WG, Engelen-Lee J, Schelhaas HJ, de Visser M, van der Kooi AJ, van der Pol WL, Pasterkamp RJ, Veldink JH, van den Berg LH. Koppers M, et al. Among authors: van blitterswijk mm, van der pol wl, van der kooi aj, van den berg lh, van vught pw. Neurobiol Aging. 2012 Apr;33(4):837.e7-13. doi: 10.1016/j.neurobiolaging.2011.10.006. Epub 2011 Nov 10. Neurobiol Aging. 2012. PMID: 22078486
Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis.
van Es MA, Schelhaas HJ, van Vught PW, Ticozzi N, Andersen PM, Groen EJ, Schulte C, Blauw HM, Koppers M, Diekstra FP, Fumoto K, LeClerc AL, Keagle P, Bloem BR, Scheffer H, van Nuenen BF, van Blitterswijk M, van Rheenen W, Wills AM, Lowe PP, Hu GF, Yu W, Kishikawa H, Wu D, Folkerth RD, Mariani C, Goldwurm S, Pezzoli G, Van Damme P, Lemmens R, Dahlberg C, Birve A, Fernández-Santiago R, Waibel S, Klein C, Weber M, van der Kooi AJ, de Visser M, Verbaan D, van Hilten JJ, Heutink P, Hennekam EA, Cuppen E, Berg D, Brown RH Jr, Silani V, Gasser T, Ludolph AC, Robberecht W, Ophoff RA, Veldink JH, Pasterkamp RJ, de Bakker PI, Landers JE, van de Warrenburg BP, van den Berg LH. van Es MA, et al. Among authors: van blitterswijk m, van der kooi aj, van hilten jj, van damme p, van den berg lh, van de warrenburg bp, van nuenen bf, van vught pw, van rheenen w. Ann Neurol. 2011 Dec;70(6):964-73. doi: 10.1002/ana.22611. Ann Neurol. 2011. PMID: 22190368 Free PMC article. Review.
83 results